1/4. A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val.mastocytosis is a term used for a group of disorders characterized by abnormal growth and accumulation of tissue mast cells (MC) in one or more organ systems. In patients with systemic mastocytosis (SM) the clinical course may be indolent or aggressive or even complicated by leukemic progression or an associated clonal hematologic non mast cell lineage disease (AHNMD). However, at first presentation (diagnosis) it may be difficult to define the category of disease and the prognosis. We report on a 48-year-old female patient with SM with urticaria pigmentosa-like skin lesions and mediator-related symptoms. She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). In addition, she exhibited discrete histologic signs of myeloproliferation in the 'non-affected' marrow and monoclonal blood cells established by C-KIT 2468A-->T mutation (Asp-816-Val) -analysis and HUMARA assay. Despite these findings, however, the clinical course was stable over years and no AHNMD or organ impairment developed. Because of the 'intermediate' clinical signs and absence of progression to aggressive disease, we proposed the term 'smouldering mastocytosis'.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
2/4. Massive histamine release in a patient with systemic mastocytosis.We have measured plasma histamine concentrations, systemic vascular resistance, cardiac output and arterial pressure during laparotomy in a patient with systemic mastocytosis. The patient developed vasodilation and hypotension during surgery, associated with a massive increase in plasma histamine concentration.- - - - - - - - - - ranking = 0.83333333333333keywords = mastocytosis (Clic here for more details about this article) |
3/4. shock in an infant with bullous mastocytosis.A 6-month-old infant had bullous lesions on his posterior neck, upper trunk, and extremities for two months prior to admission for fever and shock. He had an elevated white blood cell count with left shift and normal platelet count, but abnormal coagulation studies. He was treated with intravenous antibiotics, crystalloids, fresh-frozen plasma, and pressor agents. A histamine H2 receptor antagonist was started for guaiac-positive nasogastric tube drainage. The patient recovered after four days of treatment. A skin biopsy confirmed mastocytosis. A week later the child passed grossly bloody stools with blood clots. No source of gastrointestinal bleeding was identified by extensive work-up. Blood histamine level measured one day before gastrointestinal bleeding was 16,400 pg/ml (normal 263 /- 202 pg/ml). The bleeding resolved spontaneously. The patient was maintained on cimetidine. Results of a subsequent bone scan were normal. shock or gastrointestinal bleeding associated with unusual skin lesions should alert the pediatrician to the possibility of mastocytosis.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
4/4. shock of unknown origin--think of mastocytosis!shock of unknown origin may be due to mastocytosis, in which excessive release of mast cell mediators can cause severe systemic vasodilation. We describe a patient who experienced two life-threatening episodes of shock which appeared to be due to mastocytosis. Therapeutic options are discussed.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |